22q11.2 Deletion Syndrome (Homo sapiens)

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102253130miRnaGene ProductMetaboliteMIM-binding of a compound to anotherMIM-catalysis of a compound by an enzymeMIM-gap of knowledge on the exact nature of the interactionPathwayData node for a pathwayCompoundDashed line indicates unclear mechanismof interaction/unclear intermediatesMIM-conversion of a compound to anotherSynaptic transmissionat thalamocortical glutamatergic projectionsData node for a micro RNAMIM-transcription-translation of a geneData node for a gene or its productMIM-inhibition of a compound's function or a processData node for a metaboliteMIM-stimulation of an enzyme or a gene leading to its activation or expressionreward-mediating mesocorticolimbicpathwaysGP5hsa-miR-9-5pVWFTranslocation of SLC2A4 to the plasma membrane Dopamine metabolismInsulin SignallingGP1BANeurotransmitter clearanceGP1BBHeart developmentDRD2Blood Clotting CascadeGP9738152493915912112913203574232681431342316316, 276, 195, 16, 2226262614PPLCR22BLCR22ALCR22CCentromeredegradation of ubiquitinfusion proteinsnucleosome assemblyduring sperm nucleus decondensationApoptosisthrough caspase activationNeurite outgrowthin neural precursorcellsmitochondrial redoxhomeostasis MitochondrionDNA unwinding during replication elongation cell cycle-dependenthistone genetranscriptionMesenchymevesicle fusion at the endoplasmic reticulum or Golgi membranesAsymmetric remodelling of PAASecond heart fieldAxonal Growth(Premature) differentiation of SHF cellsNeuronal inhibitionIncreased RA signallingintracellular signalingSERPIND1GLUD1CCDC188hsa-mir-4761ARVCFRAF1MED15ALDH4A1KLHL22LZTR1UFD12-oxoglutaric acidTHAP7SLC7A4DGCR6LcitrateL-Glutamic gamma-semialdehydeLRRC74BOATTSSK2HIC2RAF1hsa-mir-1286HIRIP3prolineHAND2SHOC2RTN4RCDC45SLC2A4SEPT5RAS/MAPK signal transductionTANGO2DGCR2DGCR6hsa-miR-3618LINC00896Urea cycleGSC218C22orf39CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74LOC101927859PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL4033hsa-mir-6816USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A1CRKL281-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1PCDC423736DGCR8hsa-miR-18517EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation GP1BB3240LCR22D17PRAF1PcitrateTCA cycleGP1b-IX-V activation signalling21, 2521, 25ACTA2ACTC1DopamineFOXA2FOXC1FOXC2TBX126


Description

The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.

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Ontology Terms

 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
107179view14:26, 17 September 2019MaintBotChEBI identifier normalization
106807view13:28, 17 September 2019MaintBotHMDB identifier normalization
105133view06:22, 10 July 2019Fehrhartfixed unconnected lines and SHH part of pathway
105073view17:20, 4 July 2019Victoravrfixed interactions
105072view12:57, 4 July 2019VictoravrAdded CLTC1 pathways
105049view21:44, 2 July 2019Victoravr2 added pathways for COMT
105048view20:54, 2 July 2019VictoravrAdded legend and fixed interactions
105027view16:42, 30 June 2019VictoravrDGCR8 mediated DRD2 upregulation added
105025view10:40, 29 June 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
104987view21:55, 27 June 2019Victoravradded pathway
104984view19:56, 27 June 2019VictoravrAdded downstream genes
104957view12:03, 27 June 2019VictoravrGP1BB downstream added
104955view10:21, 27 June 2019VictoravrAdding of gene functional descriptions
104952view07:25, 27 June 2019Fehrhartwork in progress
104941view11:53, 26 June 2019VictoravrOntology Term : 'neurological disorder pathway' added !
104940view11:50, 26 June 2019VictoravrOntology Term : 'disease pathway' added !
104939view11:50, 26 June 2019VictoravrOntology Term : 'velocardiofacial syndrome' added !
104938view11:35, 26 June 2019FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
1-pyrroline-5-carboxylateMetaboliteCHEBI:15893 (ChEBI)
2-oxoglutaric acidMetaboliteCHEBI:30915 (ChEBI)
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI)
4-hydroxyretinoic acidMetaboliteCHEBI:63795 (ChEBI)
4-oxo-Retinoic acidMetaboliteHMDB0006285 (HMDB)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39GeneProductENSG00000242259 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CCDC188GeneProductENSG00000234409 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl) ONLY isoform 2, which is brain-specific; CDC42PALM
CDC45GeneProductENSG00000093009 (Ensembl)
CHRDGeneProductENSG00000090539 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
COMTGeneProductENSG00000093010 (Ensembl)
CRKLGeneProductENSG00000099942 (Ensembl)
CYP26A1GeneProductENSG00000095596 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
CYP26C1GeneProductENSG00000187553 (Ensembl)
DGCR2GeneProductENSG00000070413 (Ensembl)
DGCR6GeneProductENSG00000183628 (Ensembl)
DGCR6LGeneProductENSG00000128185 (Ensembl)
DGCR8GeneProductENSG00000128191 (Ensembl)
DL-MetanephrineMetaboliteCHEBI:89633 (ChEBI)
DOPACMetaboliteCHEBI:41941 (ChEBI)
DRD2GeneProductENSG00000149295 (Ensembl)
DROSHAGeneProductENSG00000113360 (Ensembl)
Dopamine metabolismPathwayWP2436 (WikiPathways)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl)
EpinephrineMetabolite33568 (ChEBI)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
GBX2GeneProductENSG00000168505 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GNB1LGeneProductENSG00000185838 (Ensembl)
GP1BAGeneProductENSG00000185245 (Ensembl)
GP1BBGeneProductENSG00000203618 (Ensembl)
  • Involved in Macrothrombocytopenia development
  • Responsible for Bernard-Soulier syndrome
GP1b-IX-V activation signallingPathwayWP1823 (WikiPathways)
GP5GeneProductENSG00000178732 (Ensembl)
GP9GeneProductENSG00000169704 (Ensembl)
GSC2GeneProductENSG00000063515 (Ensembl) DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid
HAND2GeneProductENSG00000164107 (Ensembl)
HES1GeneProductENSG00000114315 (Ensembl)
HIC2GeneProductENSG00000169635 (Ensembl)
HIRAGeneProductENSG00000100084 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Heart developmentPathwayWP1591 (WikiPathways)
Homovanillic acidMetaboliteCHEBI:545959 (ChEBI)
Insulin SignallingPathwayWP481 (WikiPathways)
KLHL22GeneProductENSG00000099910 (Ensembl)
L-Glutamic gamma-semialdehydeMetaboliteHMDB0002104 (HMDB)
LINC00896GeneProductENSG00000236499 (Ensembl)
LOC101927859GeneProduct
  • serine/arginine repetitive matrix protein 2-like
  • No annotation
LRRC74BGeneProductENSG00000187905 (Ensembl)
LZTR1GeneProductENSG00000099949 (Ensembl)
MED15GeneProductENSG00000099917 (Ensembl)
MRPL40GeneProductENSG00000185608 (Ensembl)
NKX2-5GeneProductENSG00000183072 (Ensembl)
Neurotransmitter clearancePathwayWP1870 (WikiPathways)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
NormetanephrineMetabolite89951 (ChEBI)
Notch signallingPathway268 (WikiPathways)
OATGeneProductENSG00000065154 (Ensembl)
OrnithineMetaboliteCHEBI:16176 (ChEBI)
P2RX6GeneProductENSG00000099957 (Ensembl)
PAX3GeneProductENSG00000135903 (Ensembl)
PI4KAGeneProductENSG00000241973 (Ensembl)
PITX2GeneProductENSG00000164093 (Ensembl)
PPP1CBGeneProductENSG00000213639 (Ensembl)
PRODHGeneProductENSG00000100033 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RANBP1GeneProductENSG00000099901 (Ensembl)
RAS/MAPK signal transductionPathwayWP2735 (WikiPathways)
RTL10GeneProductENSG00000215012 (Ensembl)
RTN4RGeneProductENSG00000040608 (Ensembl)
Retinoic acidMetaboliteCHEBI:6067 (ChEBI)
SCARF2GeneProductENSG00000244486 (Ensembl)
SEPT5GeneProductENSG00000184702 (Ensembl)
SERPIND1GeneProductENSG00000099937 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SHOC2GeneProductENSG00000108061 (Ensembl)
SLC25A1GeneProductENSG00000100075 (Ensembl)
  • Altered mitochondrial metabolism
  • Causative gene for Combined D-2- and L-2-hydroxyglutaric aciduria
SLC2A4GeneProductENSG00000181856 (Ensembl)
SLC7A4GeneProductENSG00000099960 (Ensembl)
SNAP29GeneProductENSG00000099940 (Ensembl)
SRFGeneProductENSG00000112658 (Ensembl)
TANGO2GeneProductENSG00000183597 (Ensembl)
TBX1GeneProductENSG00000184058 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
THAP7GeneProductENSG00000184436 (Ensembl)
TRMT2AGeneProductENSG00000099899 (Ensembl)
TSKSGeneProductENSG00000126467 (Ensembl)
TSSK2GeneProductENSG00000206203 (Ensembl)
TXNRD2GeneProductENSG00000184470 (Ensembl)
Translocation of SLC2A4 to the plasma membrane PathwayWP2777 (WikiPathways)
UFD1GeneProductENSG00000070010 (Ensembl)
USP41GeneProductENSG00000161133 (Ensembl)
Urea cyclePathwayWP497 (WikiPathways)
VWFGeneProductENSG00000110799 (Ensembl) Type your comment heref
ZDHHC8GeneProductENSG00000099904 (Ensembl)
ZNF74GeneProductENSG00000185252 (Ensembl)
citrateMetaboliteCHEBI:133748 (ChEBI) Cytplasm citrate
glutamateMetaboliteCHEBI:14321 (ChEBI)
glutamineMetaboliteCHEBI:28300 (ChEBI)
hsa-miR-150RnaMIMAT0000451 (miRBase mature sequence)
hsa-miR-185RnaMIMAT0000455 (miRBase mature sequence)
hsa-miR-194-1RnaMIMAT0000460 (miRBase mature sequence)
hsa-miR-3618RnaMIMAT0017998 (miRBase mature sequence)
hsa-miR-363RnaMIMAT0000707 (miRBase mature sequence)
hsa-miR-9-5pRnaMIRT437986 (miRBase mature sequence) NEEDS VERIFICATION! assumption based on study finding dgcr8 deletion increases drd2 expression which is only a target to hsa-miR-9 according to mirtarbase
hsa-mir-1286RnaMIMAT0005877 (miRBase mature sequence)
hsa-mir-1306RnaMI0006443 (miRBase Sequence)
hsa-mir-4761RnaMI0017402 (miRBase Sequence)
hsa-mir-649RnaMIMAT0003319 (miRBase mature sequence)
hsa-mir-6816RnaMI0022661 (miRBase Sequence)
prolineMetaboliteCHEBI:26271 (ChEBI)
retinalMetaboliteCHEBI:15035 (ChEBI)
riluzoleMetaboliteCHEBI:8863 (ChEBI)

Annotated Interactions

No annotated interactions

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